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[Neonatal screening of hemoglobinopathies in a population residing in Portugal]
M J Peres1, M H Carreiro, M C Machado
1Departamento de Genética e Biologia Médica, Instituto Nacìonal de Saúde Dr Ricardo Jorge, Alfredo da Costa, Lisboa.
Insights
Newborn screening identified sickle cell trait carriers but no sickle cell disease in Lisbon. Alpha-thalassemia carriers were also detected, informing screening feasibility in diverse populations.
Area of Science:
- Medical Genetics
- Neonatal Screening
- Hematology
Context:
- Newborn screening for hemoglobinopathies is crucial for early detection of sickle cell disease.
- Pilot study conducted in Lisbon on 400 cord blood samples.
- Investigated feasibility in a Portuguese-speaking population with immigrant minorities.
Purpose:
- To assess the feasibility of neonatal screening for hemoglobinopathies in Lisbon.
- To identify infants with sickle cell disease and other hemoglobinopathies.
- To detect alpha-thalassemia carriers at birth.
Summary:
- No newborns with sickle cell disease were found in 400 cord blood samples.
- Six samples revealed sickle cell trait (heterozygotes); families were informed.
- Alpha-thalassemia carriers identified: 10% for (-alpha) and 4% for triple alpha-globin gene carriers.
Impact:
- Provides data on hemoglobinopathy prevalence in a specific population.
- Highlights the need for tailored screening strategies.
- Informs public health policies regarding genetic screening in diverse communities.
Abstract:
The primary objective of newborn screening of hemoglobinopathies is the early identification of infants with sickle cell disease, as they are at increased clinical risk. Other goals include the identification of other types of clinically significant hemoglobinopathies and the detection of heterozygous carriers followed by the screening and counselling of family members. We performed a pilot study for the neonatal screening of hemoglobinopathies in 400 samples of cord blood taken from a maternity in Lisbon. We did not find any newborn with sickle cell disease. Six samples were from sickle cell heterozygotes, the respective families were studied and informed. We looked for the presence of alpha-thalassemia at birth in 100 consecutive samples of cord blood, by the presence of Hb Bart's, abnormal red blood cell indices and alpha-globin genotype. The results show an incidence of 10% of alpha-thalassemia (-alpha) carriers and 4% of triple alpha-globin gene carriers. The authors discuss the feasibility of neonatal screening of hemoglobinopathies in a Portuguese-speaking population consisting of a low prevalence of Hb S trait autoclonous group and a high prevalence immigrant minority.